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Lab Results for Haematological Disorders
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Iron Deficiency Anaemia Megaloblastic Anaemias and Vitamin B12 Deficiency Folic Acid Anaemia of Chronic Disease
Anaemia of Chronic Renal Insufficiency Anaemia of Hypometabolism Hereditary Spherocytosis Glucose-6-Phosphate
Pyruvate Kinase deficiency The Thallasemias Sickle Cell Disease Haemoglobin C Disease
Autoimmune Haemolytic Anaemia Drug Induced Immune Haemolysis Haemolytic-Uraemic Syndrome Paroxysmal Nocturnal Haematuria
Haemolytic Disease of the Newborn Aplastic Anaemia Sideroblastic Anaemia Anaemia of Marrow Infiltration
Haemophilia A Von Willebrands Disease Haemophilia B Disseminated Intravascular Coagulation
Ideopathetic Thrombocytopenic Purpura Chronic Granulomatous Disease Myelofibrosis With Myeloid Metaplasia Polycythaemia Vera
Essential Thrombocytopenia Acute Leukaemia Chronic Myelocytic Leukaemia Chronic Lymphocytic Leukaemia
Malignant/Non-Hodgkin's Lymphomas Hodgkins Disease Immunoproliferative Disorders Leukaemic Reticuloendotheliosis
Multiple Myelomas Macroglobulinaemia Heavy Chain Disease .
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IRON DEFICIENCY ANAEMIA

LABORATORY FINDINGS

Peripheral Blood
 

Sequential Stages in the Development of Iron Deficiency Bone Marrow Other Laboratory Findings* Laboratory Findings of Underlying Disease

  • Diagnosis of iron deficiency is usually straightforward
  • Determining the cause can be difficult


Iron metabolism

  • The body contains about 5g of iron
  • 70% is found in haemoglobin
  • Daily dietary requirements are about 1 mg in a man and 3 mg in a women
  • An average western diet contains about 15 mg of iron daily only 5-10% of which is absorbed
  • Absorption occurs in the ferrous form in the upper part of small intestine
  • Iron is carried to bone marrow by plasma transferrin
  • Iron is stored bound to ferritin and as haemosiderin
  • About 1 mg of iron is lost per day in urine, faeces and shed cells
  • Menstrual losses account for an extra 20 mg per month
  • Clinical features

    • Depend of rate of onset
    • If insidious then symptoms are often few
    • Commonest symptoms are of lethargy and dyspnoea
    • Skin atrophy occurs in about 30% of patients
    • Nail changes include koilonychia (spoon shaped nails)
    • Patients may also develop angular stomatitis and glossitis
    • Oesophageal and pharyngeal webs may be seen
    • Examination should be directed to possible underlying cause

    Causes of iron deficiency

    • Increased blood loss - uterine, GI tract, urine
    • Increased demands - prematurity, growth, child-bearing
    • Malabsorption - post-gastrectomy, coeliac disease
    • Poor diet

    MEGALOBLASTIC ANAEMIAS AND VITAMIN B12 DEFICIENCY
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    LABORATORY FINDINGS

    All Megaloblastic Anaemias

    Peripheral Blood

    Bone Marrow Other Laboratory findings Pernicious Anaemia

    Megaloblastic Anaemia - Bone Marrow

    Megaloblastic Anaemia - Peripheral Blood

    FOLIC ACID DEFICIENCY
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    LABORATORY FINDINGS

    Peripheral Blood

    Bone Marrow Other Laboratory Findings
      Laboratory Findings of Impaired Intestinal Absorption or Its Causes
    ANAEMIA OF CHRONIC DISEASE
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    LABORATORY FINDINGS

    Peripheral Blood

    Bone Marrow Other Laboratory Findings Laboratory Findings of Underlying Disease
    ANAEMIA OF CHRONIC RENAL INSUFFICIENCY
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    LABORATORY FINDINGS

    Peripheral Blood

    Bone Marrow Other Laboratory Findings
    ANAEMIA OF HYPOMETABOLISM
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    LABORATORY FINDINGS


    HEREDITARY SPHEROCYTOSIS
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    LABORATORY FINDINGS

    Peripheral Blood

    Bone Marrow Other Laboratory Findings Increased Osmotic Fragility Test

    Spherocytes in peripheral blood

    Splenomegaly in Hereditary Spherocytosis

    GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY
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    LABORATORY FINDINGS

    Diagnostic Laboatory Tests

    No Haematologic Findings in the Absence of haemolysis

    Haematologic Findings in the Prescence of Haemolysis

    Phase 1

    Phase 2 Phase 3


    PYRUVATE KINASE DEFICIENCY
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    Definition
    Pyruvate kinase deficiency is an inherited deficiency in the red blood cell of the enzyme pyruvate kinase. The deficiency is responsible for a form of hemolytic anemia

    Causes and risks
    Pyruvate kinase deficiency is transmitted as an autosomal recessive trait. There are many different types of enzymatic defects of the red blood cell that produce hemolytic anemia. However, pyruvate kinase deficiency is important because it is the second most common cause (G-6-PD, glucose-6-phosphatase dehydrogenase is number one) of enzymatic-related hemolytic anemia.
    Pyruvate kinase deficiency may produce mild or severe hemolysis and anemia. Problems may first appear in the newborn as prolonged neonatal jaundice and anemia. Older children may be pale (from their anemia) and have intermittent episodes of jaundice. Occasionally it is not discovered until adulthood in mild cases.


    LABORATORY FINDINGS

    Peripheral Blood

    Bone Marrow Other Laboratory Findings
    Pyruvate kinase deficiency an autosomal recessive disorder causing polychromasia, anisocytosis, poikilocytosis with burr cells and acanthocytes, and NRBCs.
    Reduced ATP formation causes RBC membrane rigidity, resulting in hemolysis. Symptoms are usually mild as increased 2,3-DPG causes a right shift of the 02-dissociation curve.
    Persons homozygote for PK deficiency show severe anemia and are usually discovered in childhood.
    Splenomegaly, cholelithiasis and jaundice are frequent.

    THE THALASSEMIAS
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    Definition
    Hereditary disorders characterized by defective production of hemoglobin, which leads to anemia.

    Causes and risks
    An imbalance in the alpha and beta protein globin chains necessary for the production of hemoglobin is caused by the inheritance of a defective gene. There are two types, alpha thalassemia and beta thalassemia. Genes must be inherited from both parents to acquire the disease. If one gene is inherited, the person will be a carrier of the disease but will not have symptoms. Alpha thalassemias occurs in people from southeast Asia and China, and are caused by deletion of a gene or genes from the globin chain. The most severe form of alpha thalassemia causes a stillborn fetus as a result of hydrops fetalis.
    Beta thalassemia occurs in people of Mediterranean origin, and to a lesser extent, Chinese, other Asians, and blacks. It is caused by a mutation in the globin chain. Affected children are normal at birth but develop anemia during the first year of life. Growth failure, bone deformities, and enlarged liver and spleen are some of the problems that can occur. Blood transfusions may modify some of the disease manifestation, but iron overload from the transfusions can cause damage to the heart, liver, and endocrine systems. A milder form of the disease, thalassemia minor, produces iron-deficient appearing blood cells, with no symptoms. Risk factors include a family history of thalassemia and an ethnic background susceptible to the disease. The incidence varies widely throughout the world.


    LABORATORY FINDINGS

    Beta-thalassemia Minor

    Peripheral Blood

    Bone Marrow Other Laboratory Findings

    Image 1A

    Image 1b

    Image 1c
    Thalassemia Image Series(Link to Image source)BLOODLINE
    Image 1A - Beta thalassemia minor (200 X Magnification)
    28-year-old female with a life-long history of anemia. Her mother and several great-aunts have a similar history. Laboratory values include 11.0 hgb/33 hct and 66 MCV.
    Most of the red cells are smaller than the lymphocyte's nucleus, so appear microcytic. Most are normochromic but a few appear hypochromic. A few elliptocytes and target cells are noted.
    Image 1B - Beta thalassemia minor (400 X Magnification)
    Same woman as image 1a. Note the numerous poikilocytic red cells (elliptocytes, keratocytes or bite cells, schistocytes, target cells and spherocytes) which are usually present in this hemoglobinopathy.
    Image 1C - Beta thalassemia minor (400 X Magnification)
    Same woman as image 1a. A few oval and elliptocytes are present. One cell containing coarse basophilic stippling is at right of center.
    Beta-thalassemia Major

    Peripheral Blood

    Bone Marrow Other Laboratory Findings Thalassemia Image Series(Link to Image source)BLOODLINE
    6-month-old baby girl with a Greek ancestry. She has been pale and listless with frequent episodes of irritability throughout her young life. Relevant laboratory values are 6.7 hgb/20 hct, 62 MCV, 11.5 uncorrected retic and 10 nucleated red cells per 100 identifiable white cells.

    A late erythroblast appears in the upper left quadrant. It is smaller than normal and displays scanty cytoplasm which is defective in hemoglobin color. Some red cells are large and slightly gray-blue (polychromatophilic). They represent red cells newly reIeased from the marrow in response to the anemia. The majority of the red cells are microcytic. Many are hypochromic. The many poikilocytes (ovalocytes, elliptocytes, tear drops, schistocytes) represent red cells which have been traumatized, deformed and/or split when negotiating small passages in the spleen. They contained precipitated hemoglobin chains, known as Heinz bodies, which were too large to squeeze through these tiny passages and were removed from the red cells in transit.

    Alpha-thalassemia Minor HbH Disease

    Haemoglobin H (Link to image source)
    The blood film shows hypchromia, microcytosis, and target cells. HbH disease is due to deletion of three out of four alpha globin genes, resulting in an anaemia which varies from mild to severe.

    SICKLE-CELL DISEASE
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    Sickle cell disease is an inherited blood disorder in which there is a substitutive defect in the formation of hemoglobin in the red blood cells, producing a distinctive disease process. This disease was first scientifically recorded in 1910 by Dr. James Herrick. While examining the blood of a young West Indian student, he observed that many of the red blood cells were elongated with a curved shape instead of the normal round configuration. It was after similar repeated observations by other investigators that the descriptive term "sickle cell anemia" was used to describe this disease.

    In sickle cell anemia, there is an alteration in the arrangement of the hemoglobin molecular structure. At the sixth position in each beta chain where the amino acid, glutamate should normally be incorporated, it is replaced by another amino acid, valine. This small change in the molecule results in great changes in its physical and chemical characteristics, so that in certain stressful conditions when the body is deprived of oxygen, the red cells then assume a crescent, banana, or sickle shape. This particular shape of the red cells makes its travel through the smaller blood vessels extremely difficult, producings an obstruction by creating a "log-jam", which may result in tissue and ultimately organ damage. Because of the abnormal hemoglobin and the shape of the red cells, they are quickly destroyed. This, combined with an inability of the body to produce sufficient numbers of new cells, produces a state of anemia.

    The term sickle cell disease refers to all the clinically significant sickling disorders, since the degree of anemia may be variable and many potentially dangerous episodes can occur without an increase in the severity of the anemia.


    Link to image source

    Welcome to the Sickle Cell Disease Program of the University of Minnesota Health System (UMHS).

    LABORATORY FINDINGS

    Sickle Cell Trait (HbAS Disease)

    Sickle Cell Anaemia (HbSS Disease)

    Peripheral Blood

    Bone Marrow Other Laboratory Findings HbSC Disease Sickle Cell B-Thalassemia Disease
    HAEMOGLOBIN C DISEASE

    Haemoglobin electrophoresis showing (1) normal, (2) newborn, (3) Hb C trait (A-C), (4) Hb SC disease (SC), (5) sickle cell disease (SS), (6) sickle cell trait (A-S), (7) newborn, (8) normal.

    Haemoglobin C disease (link to image source)
    Glutamine in the 6th position of the beta globin chain is replaced by lysine. In the homozygous state (HbC disease), mild anaemia and splenomegaly is present. The condition is found in Africa and the Middle East.

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    LABORATORY FINDINGS

    HbAC Trait

    HbCC Disease

    Peripheral Blood
     

    Bone Marrow Other Laboratory Findings HbSC Disease
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